1. Mutations in RARS cause hypomyelination
- Author
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Wolf, N.I., Salomons, G.S., Rodenburg, R.J., Pouwels, P.J., Schieving, J.H., Derks, T.G., Fock, J.M., Rump, P., Beek, D.M. van, Knaap, M.S. van der, Waisfisz, Q., Pediatric surgery, Laboratory Medicine, Physics and medical technology, Human genetics, NCA - Brain mechanisms in health and disease, and Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease
- Subjects
SDG 3 - Good Health and Well-being ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] - Abstract
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing, we could ascertain compound heterozygous mutations in RARS in 4 patients with hypomyelination. Clinical features included severe spasticity and nystagmus. RARS encodes the cytoplasmic arginyl-tRNA synthetase, an enzyme essential for RNA translation. This protein is among the subunits of the multisynthetase complex, which emerges as a key player in myelination. Ann Neurol 2014;76:134-139 © 2014 American Neurological Association.
- Published
- 2014
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